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Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
This article presents a brief overview of the main biochemical and cellular processes involved in regulation of cyclic GMP production in...
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Correction to: Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
A Correction to this paper has been published: https://doi.org/10.1007/s00424-021-02547-w
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
Background5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging...
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A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework...
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Identical tau filaments in subacute sclerosing panencephalitis and chronic traumatic encephalopathy
Subacute sclerosing panencephalitis (SSPE) occurs in some individuals after measles infection, following a symptom-free period of several years. It...
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Preclinical Models of Retinitis Pigmentosa
Retinitis pigmentosa (RP) is the name for a group of phenotypically-related heritable retinal degenerative disorders. Many genes have been implicated...
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A review on the role of LINC00467 in the carcinogenesis
LINC00467 is an example of long intergenic non-coding RNAs whose roles in human disorders are being identified. This gene coding LINC00467 is located...
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Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease
Missense variants in leucine-rich repeat kinase 2 (LRRK2) lead to familial and sporadic Parkinson’s disease (PD). The pathological features of PD...
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Pumilio-1 mediated translational control of claudin-5 at the blood-brain barrier
AbstractClaudin-5 is one of the most essential tight junction proteins at the blood-brain barrier. A single nucleotide polymorphism rs10314 is...
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Severe CTE and TDP-43 pathology in a former professional soccer player with dementia: a clinicopathological case report and review of the literature
In the last decades, numerous post-mortem case series have documented chronic traumatic encephalopathy (CTE) in former contact-sport athletes, though...
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Differential vulnerability of the dentate gyrus to tauopathies in dementias
The dentate gyrus (DG), a key hippocampal subregion in memory processing, generally resists phosphorylated tau accumulation in the amnestic dementia...
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Tau Protein and Frontotemporal Dementias
Filamentous inclusions of tau protein are found in cases of inherited and sporadic frontotemporal dementias (FTDs). Mutations in MAPT, the tau gene,...
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Tau and TDP-43 accumulation of the basal nucleus of Meynert in individuals with cerebral lobar infarcts or hemorrhage
A previous study reported that a massive cerebral infarct in the territory of the middle cerebral artery (MCA) may be associated with development of...
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In Vitro Amplification of Pathogenic Tau Seeds from Neurodegenerative Disease Patient Brains
Aggregated microtubule-associated protein tau (tau) is the hallmark lesion of a group of neurodegenerative diseases, termed tauopathies. Normal...
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Cancer Gene Therapy: Development and Production of Lentiviral Vectors for Gene Therapy
Lentiviral vectors are among the most used vectors in gene therapy to treat pathologies of different origins, such as cancers, rare monogenic...
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Directly Reprogrammed Neurons Express MAPT and APP Splice Variants Pertinent to Ageing and Neurodegeneration
Neurons produced by reprogramming of other cell types are used to study cellular mechanisms of age-related neurodegenerative diseases. To model...
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced...
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Sha** the future of preclinical development of successful disease-modifying drugs against Alzheimer's disease: a systematic review of tau propagation models
The transcellular propagation of the aberrantly modified protein tau along the functional brain network is a key hallmark of Alzheimer's disease and...
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Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis...
